ClinVar Miner

Submissions for variant NM_024494.3(WNT2B):c.82G>A (p.Ala28Thr)

gnomAD frequency: 0.00113  dbSNP: rs199522950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002735684 SCV003017895 likely benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV005288803 SCV005962605 uncertain significance not specified 2025-02-23 criteria provided, single submitter clinical testing The c.82G>A (p.A28T) alteration is located in exon 1 (coding exon 1) of the WNT2B gene. This alteration results from a G to A substitution at nucleotide position 82, causing the alanine (A) at amino acid position 28 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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